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Aliases for NKX1-2 Gene

Aliases for NKX1-2 Gene

  • NK1 Homeobox 2 2 3 5
  • Homeobox Protein SAX-1 3 4
  • C10orf121 3 4
  • NKX-1.1 3 4
  • NK1 Transcription Factor Related, Locus 2 (Drosophila) 2
  • NK1 Transcription Factor-Related Protein 2 3
  • NK1 Transcription Factor Related, Locus 2 3
  • Chromosome 10 Open Reading Frame 121 2
  • BB238F13.2 3
  • NKX1.1 4

External Ids for NKX1-2 Gene

Previous HGNC Symbols for NKX1-2 Gene

  • C10orf121

Previous GeneCards Identifiers for NKX1-2 Gene

  • GC10M126127
  • GC10M119820
  • GC10M126135

Summaries for NKX1-2 Gene

GeneCards Summary for NKX1-2 Gene

NKX1-2 (NK1 Homeobox 2) is a Protein Coding gene. Diseases associated with NKX1-2 include Transposition Of The Great Arteries. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding. An important paralog of this gene is NKX1-1.

UniProtKB/Swiss-Prot for NKX1-2 Gene

  • May function in cell specification, particularly in the CNS.

Additional gene information for NKX1-2 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NKX1-2 Gene

Genomics for NKX1-2 Gene

GeneHancer (GH) Regulatory Elements for NKX1-2 Gene

Promoters and enhancers for NKX1-2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10I124449 Enhancer 0.9 FANTOM5 ENCODE 555.9 -0.7 -734 2.1 USF1 ZNF777 BACH1 ZIC2 ZNF2 HIC1 ZNF335 ZFHX2 GLIS2 POLR2A NKX1-2 ENSG00000271434 LHPP
GH10I124448 Enhancer 0.6 ENCODE 550.8 +1.1 1140 0.5 CTCF L3MBTL2 MAX SIN3A REST ZNF335 GLIS2 KLF9 EZH2 NKX1-2 ENSG00000271434
GH10I124450 Enhancer 0.6 ENCODE 550.8 +0.7 707 0.2 L3MBTL2 MAX SIN3A REST ZEB1 ZNF335 ZBTB48 ZNF341 KLF9 ZBTB26 NKX1-2 ENSG00000271434
GH10I124412 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 11.4 +32.5 32493 10.5 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B OAT NKX1-2 EEF1AKMT2 LOC105378536
GH10I124427 Enhancer 0.9 ENCODE dbSUPER 13 +21.3 21279 3.1 BCOR ZNF362 NFIA HLF ZMYM3 OSR2 ZNF121 ZNF335 ZFHX2 ZNF512B NKX1-2 CHST15 FAM53B OAT OATP1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around NKX1-2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NKX1-2 gene promoter:

Genomic Locations for NKX1-2 Gene

Genomic Locations for NKX1-2 Gene
chr10:124,445,239-124,450,184
(GRCh38/hg38)
Size:
4,946 bases
Orientation:
Minus strand
chr10:126,135,592-126,138,753
(GRCh37/hg19)

Genomic View for NKX1-2 Gene

Genes around NKX1-2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NKX1-2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NKX1-2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NKX1-2 Gene

Proteins for NKX1-2 Gene

  • Protein details for NKX1-2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UD57-NKX12_HUMAN
    Recommended name:
    NK1 transcription factor-related protein 2
    Protein Accession:
    Q9UD57

    Protein attributes for NKX1-2 Gene

    Size:
    310 amino acids
    Molecular mass:
    32381 Da
    Quaternary structure:
    No Data Available

neXtProt entry for NKX1-2 Gene

Post-translational modifications for NKX1-2 Gene

No Post-translational modifications

Other Protein References for NKX1-2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for NKX1-2 Gene

Domains & Families for NKX1-2 Gene

Gene Families for NKX1-2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for NKX1-2 Gene

Suggested Antigen Peptide Sequences for NKX1-2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UD57

UniProtKB/Swiss-Prot:

NKX12_HUMAN :
  • Belongs to the NK-1 homeobox family.
Family:
  • Belongs to the NK-1 homeobox family.
genes like me logo Genes that share domains with NKX1-2: view

Function for NKX1-2 Gene

Molecular function for NKX1-2 Gene

UniProtKB/Swiss-Prot Function:
May function in cell specification, particularly in the CNS.

Phenotypes From GWAS Catalog for NKX1-2 Gene

Gene Ontology (GO) - Molecular Function for NKX1-2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043565 sequence-specific DNA binding IEA --
genes like me logo Genes that share ontologies with NKX1-2: view

Animal Model Products

miRNA for NKX1-2 Gene

miRTarBase miRNAs that target NKX1-2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NKX1-2 Gene

Localization for NKX1-2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NKX1-2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NKX1-2 gene
Compartment Confidence
nucleus 3

Gene Ontology (GO) - Cellular Components for NKX1-2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with NKX1-2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NKX1-2 Gene

Pathways & Interactions for NKX1-2 Gene

SuperPathways for NKX1-2 Gene

No Data Available

Interacting Proteins for NKX1-2 Gene

Gene Ontology (GO) - Biological Process for NKX1-2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007275 multicellular organism development IEA --
genes like me logo Genes that share ontologies with NKX1-2: view

No data available for Pathways by source and SIGNOR curated interactions for NKX1-2 Gene

Drugs & Compounds for NKX1-2 Gene

No Compound Related Data Available

Transcripts for NKX1-2 Gene

mRNA/cDNA for NKX1-2 Gene

(1) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(1) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for NKX1-2 Gene

NK1 homeobox 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NKX1-2 Gene

No ASD Table

Relevant External Links for NKX1-2 Gene

GeneLoc Exon Structure for
NKX1-2
ECgene alternative splicing isoforms for
NKX1-2

Expression for NKX1-2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NKX1-2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NKX1-2 Gene

This gene is overexpressed in Esophagus - Mucosa (x6.7), Brain - Nucleus accumbens (basal ganglia) (x6.2), Brain - Putamen (basal ganglia) (x5.4), and Brain - Frontal Cortex (BA9) (x4.2).

SOURCE GeneReport for Unigene cluster for NKX1-2 Gene:

Hs.712041

Evidence on tissue expression from TISSUES for NKX1-2 Gene

  • Bone marrow(4)
genes like me logo Genes that share expression patterns with NKX1-2: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NKX1-2 Gene

Orthologs for NKX1-2 Gene

This gene was present in the common ancestor of animals.

Orthologs for NKX1-2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NKX1-2 33
  • 98.82 (n)
dog
(Canis familiaris)
Mammalia NKX1-2 33 34
  • 83.67 (n)
cow
(Bos Taurus)
Mammalia NKX1-2 34 33
  • 80.43 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Nkx1-2 33 16 34
  • 76.38 (n)
rat
(Rattus norvegicus)
Mammalia Nkx1-2 33
  • 75.61 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NKX1-2 34
  • 57 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NKX1-2 34
  • 51 (a)
OneToOne
chicken
(Gallus gallus)
Aves NKX1-2 33 34
  • 75.41 (n)
lizard
(Anolis carolinensis)
Reptilia NKX1-2 34
  • 51 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii nkx1.2la 34
  • 41 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta slou 34
  • 15 (a)
OneToOne
Species where no ortholog for NKX1-2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NKX1-2 Gene

ENSEMBL:
Gene Tree for NKX1-2 (if available)
TreeFam:
Gene Tree for NKX1-2 (if available)

Paralogs for NKX1-2 Gene

Paralogs for NKX1-2 Gene

(6) SIMAP similar genes for NKX1-2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with NKX1-2: view

Variants for NKX1-2 Gene

Sequence variations from dbSNP and Humsavar for NKX1-2 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1000207542 -- 124,451,787(-) T/C upstream_transcript_variant
rs1000344495 -- 124,450,551(-) T/C upstream_transcript_variant
rs1001179202 -- 124,451,056(-) C/T upstream_transcript_variant
rs1001721853 -- 124,449,751(-) C/G coding_sequence_variant, missense_variant
rs1002106474 -- 124,448,117(-) G/A/C coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for NKX1-2 Gene

Variant ID Type Subtype PubMed ID
nsv832012 CNV gain+loss 17160897

Variation tolerance for NKX1-2 Gene

Gene Damage Index Score: 6.65; 78.36% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NKX1-2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NKX1-2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NKX1-2 Gene

Disorders for NKX1-2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for NKX1-2 Gene - From: GeneCards

Disorder Aliases PubMed IDs
transposition of the great arteries
  • transposition of the great arteries, dextro-looped 1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for NKX1-2

genes like me logo Genes that share disorders with NKX1-2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NKX1-2 Gene

Publications for NKX1-2 Gene

  1. The mouse Nkx-1.2 homeobox gene: alternative RNA splicing at canonical and noncanonical splice sites. (PMID: 10681422) Rovescalli AC … Nirenberg M (Proceedings of the National Academy of Sciences of the United States of America 2000) 2 3 58
  2. Genome-wide rare copy number variations contribute to genetic risk for transposition of the great arteries. (PMID: 26655555) Costain G … Bassett AS (International journal of cardiology 2016) 3 58
  3. Genome wide association study for plasma levels of natural anticoagulant inhibitors and protein C anticoagulant pathway: the MARTHA project. (PMID: 22443383) Oudot-Mellakh T … Morange PE (British journal of haematology 2012) 44 58
  4. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PMID: 15146197) Brandenberger R … Stanton LW (Nature biotechnology 2004) 3 58
  5. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P … Rogers J (Nature 2004) 4 58

Products for NKX1-2 Gene

Sources for NKX1-2 Gene

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